W syndrome
Synonyms: Pallister-W syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability neurologic signs and symptoms (such as seizures spasticity strabismus) characteristic dysmorphic facial features (including broad forehead hypertelorism downslanting palpebral fissures broad and flat nasal bridge midline notch of upper lip lack of upper central incisors incomplete oral cleft and prominent mandible) and acne scars. Hearing impairment pseudo-bulbar palsy growth retardation and skeletal anomalies (camptodactyly clinodactyly bilateral cubitus valgus pes cavus/planus) have also been described.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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W syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.